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[Familial cerebral cavernomas: discovery made during an epileptic seizure in a 10-year-old girl].

作者信息

Reix G, Stoven C, Darcel F, Gauthier-Lasalarié P, Plésiat-Trommsdorff V, Bintner M, Flodrops H

机构信息

Service de pédiatrie générale, centre hospitalier régional de la Réunion, groupe hospitalier Sud Réunion, BP 350, Saint-Pierre, Réunion.

出版信息

Arch Pediatr. 2009 Oct;16(10):1337-40. doi: 10.1016/j.arcped.2009.07.003. Epub 2009 Aug 15.

Abstract

The assessment of an epileptic seizure in a 10-year-old girl originating from Reunion Island revealed a case of familial cerebral cavernous angioma. Multiple hemorrhagic lesions seen during a cerebral magnetic resonance imaging (MRI) scan was suggestive of cavernomas. A cerebral MRI scan in the father showed multiple asymptomatic lesions, thus confirming the familial nature. A genetic study carried out on the patient and her father confirmed the presence of a mutation of the KRIT1 gene with an autosomal dominant transmission. In these disorders, an MRI scan in the patient's parents offers great diagnostic advantages. This screening leads to precautionary measures that are easy to put in place.

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